Linked Data
dbSNP Id:
rs998543477
gnomAD v2:
13-77574524-A-AG
gnomAD v3:
13-77000389-A-AG
gnomAD v4:
13-77000389-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.77000389_77000390insG , CM000675.2:g.77000389_77000390insG | GRCh38 |
| NC_000013.10:g.77574524_77574525insG , CM000675.1:g.77574524_77574525insG | GRCh37 |
| NC_000013.9:g.76472525_76472526insG | NCBI36 |
| NG_009064.1:g.13466_13467insG , LRG_692:g.13466_13467insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377453.9:c.566-69_566-68insG (CLN5) MANE Select | ENSP00000366673.5:n.566-69_566-68insG | |
| ENST00000616833.6:c.*8-69_*8-68insG (CLN5) | ENSP00000479547.3:n.*8-69_*8-68insG | |
| ENST00000635838.1:c.174+4262_174+4263insG | ||
| ENST00000635905.1:n.566+4262_566+4263insG (CLN5) | ||
| ENST00000635915.1:c.564-69_564-68insG (CLN5) | ||
| ENST00000636183.2:c.566-69_566-68insG (CLN5) | ENSP00000490181.2:n.566-69_566-68insG | |
| ENST00000636525.2:c.565+4262_565+4263insG (CLN5) | ENSP00000490078.2:n.565+4262_565+4263insG | |
| ENST00000636681.1:c.*257-69_*257-68insG (CLN5) | ENSP00000489922.1:n.*257-69_*257-68insG | |
| ENST00000636705.1:c.402-69_402-68insG (CLN5) | ||
| ENST00000636767.2:c.565+4262_565+4263insG (CLN5) | ENSP00000489855.2:n.565+4262_565+4263insG | |
| ENST00000636780.2:c.*15-69_*15-68insG (CLN5) | ENSP00000489809.2:n.*15-69_*15-68insG | |
| ENST00000637192.1:c.213+4262_213+4263insG | ||
| ENST00000637278.1:n.892-69_892-68insG (CLN5) | ||
| ENST00000637397.2:c.565+4262_565+4263insG (CLN5) | ENSP00000490422.2:n.565+4262_565+4263insG | |
| ENST00000638101.1:c.169+4262_169+4263insG | ENSP00000490535.1:n.169+4262_169+4263insG | |
| ENST00000638147.2:c.565+4262_565+4263insG | ENSP00000490953.2:n.565+4262_565+4263insG | |
| ENST00000377453.7:c.713-69_713-68insG (CLN5) | ENSP00000366673.3:n.713-69_713-68insG | |
| ENST00000477982.2:n.1919_1920insC (FBXL3) | ||
| ENST00000485797.2:n.174-7439_174-7438insC (FBXL3) | ||
| ENST00000616833.4:c.566-69_566-68insG (CLN5) | ENSP00000479547.1:n.566-69_566-68insG | |
| NM_006493.2:c.713-69_713-68insG , LRG_692t1:c.713-69_713-68insG (CLN5) | NP_006484.1:n.713-69_713-68insG | |
| XM_011534917.1:c.*15-69_*15-68insG (CLN5) | XP_011533219.1:n.*15-69_*15-68insG | |
| NM_001366624.1:c.*15-69_*15-68insG (CLN5) | NP_001353553.1:n.*15-69_*15-68insG | |
| NM_006493.3:c.566-69_566-68insG (CLN5) | NP_006484.2:n.566-69_566-68insG | |
| XM_017020538.2:c.644-7439_644-7438insC (FBXL3) | XP_016876027.1:n.644-7439_644-7438insC | |
| NM_001366624.2:c.*15-69_*15-68insG (CLN5) | NP_001353553.1:n.*15-69_*15-68insG | |
| NM_006493.4:c.566-69_566-68insG (CLN5) MANE Select | NP_006484.2:n.566-69_566-68insG |